Canonical Allele Identifier: CA253426
Gene: ANKH HGNC NCBI

Linked Data

ClinVar Variation Id: 5194
dbSNP Id: rs121908406

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716723_14716725del , CM000667.2:g.14716723_14716725del GRCh38
NC_000005.9:g.14716832_14716834del , CM000667.1:g.14716832_14716834del GRCh37
NC_000005.8:g.14769832_14769834del NCBI36
NG_008273.1:g.160056_160058del
NG_008273.2:g.160063_160065del
NG_051625.1:g.60930_60932del

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.1124_1126del MANE Select ENSP00000284268.6:p.Ser375del
ENST00000284268.6:c.1124_1126del ENSP00000284268.6:p.Ser375del
ENST00000502585.1:n.366_368del
NM_054027.4:c.1124_1126del NP_473368.1:p.Ser375del
NM_054027.5:c.1124_1126del NP_473368.1:p.Ser375del
XM_017009644.2:c.1040_1042del XP_016865133.1:p.Ser347del
NM_054027.6:c.1124_1126del MANE Select NP_473368.1:p.Ser375del